You are interested in the effects of mutations on the expression of a particular
ID: 41173 • Letter: Y
Question
You are interested in the effects of mutations on the expression of a particular human protein-encoding gene expressed in skin cells. The gene has one intron that is 450 nucleotides long. After this intron is removed from the pre-mRNA, the mRNA transcript is 1100 nucleotides in length. Diploid somatic cells have two copies of this gene. Predict the size and amount of mRNA from the cytosol of skin cells, which were obtained from the following individuals:
Individual 1: Normal individual with no mutations in this gene
Individual 2: Homozygous for a deletion that removes the -10 to -100 region of the gene that encodes this mRNA
Individual 3: Heterozygous in which one gene is normal and the other gene has a deletion that removes the -10 to -100 region
Individual 4: Homozygous for a mutation that introduces an early stop codon into the middle of the coding sequence of the gene
Individual 5: Homozygous for a three-nucleotide deletion that removes the AG sequence at the 3? splice site
Explanation / Answer
SAMPLE
SIZE
AMOUNT
INDIVIDUAL 1
1100 bp
2 copies
INDIVIDUAL 2
1100 bp as there is mutation in intron part
2 copies
INDIVIDUAL 3
1100 bp
2 copies
INDIVIDUAL 4
550 bp approx
2 copies
SAMPLE
SIZE
AMOUNT
INDIVIDUAL 1
1100 bp
2 copies
INDIVIDUAL 2
1100 bp as there is mutation in intron part
2 copies
INDIVIDUAL 3
1100 bp
2 copies
INDIVIDUAL 4
550 bp approx
2 copies
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